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AUH Gene 3-methylglutaconic aciduria type 1 NGS Genetic Test

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AUH Gene 3-methylglutaconic aciduria type 1 NGS Genetic Test

Short Name: AUH Gene 3-MGA-1 NGS Genetic Test

Also known as: 3-MGA type 1, AUH deficiency, 3-methylglutaconic aciduria type I

AUH Gene 3-methylglutaconic aciduria type 1 NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses NGS Technology on Blood or Extracted DNA or One drop Blood on FTA Card samples. Results in 3 to 4 weeks. Free home collection in 300+ cities across India.

NGS Genetic TestAll Ages🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr SULOCHANA HEMCHANDRA HOLLA

Dr SULOCHANA HEMCHANDRA HOLLA

Consultant Medical Geneticist · Reg: 8532

Last reviewed: September 7, 2026

Overview

To identify mutations in the AUH gene for accurate diagnosis of 3-methylglutaconic aciduria type 1, enabling early intervention and genetic counseling.

Test Code
4624
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
3 to 4 weeks
Fasting Required
No
Method
NGS Technology
Step 1

Sample Collection

Genetic counseling recommended to discuss implications and obtain informed consent.

Method: Venipuncture or blood drop on FTA card

Step 2

Laboratory Analysis

Blood sample collected via venipuncture or blood drop on FTA card by trained phlebotomist.

Step 3

Report Delivery

Sample labeled and transported to the laboratory under appropriate conditions for analysis.

Timeline: 3 to 4 weeks

Patient Instructions

1
Before the Test:Genetic counseling session to discuss test purpose, implications, and obtain informed consent.
2
During the Test:Sample collection and processing in the laboratory using NGS technology.
3
After the Test:Report generation with detailed findings and genetic counseling for result interpretation.

About This Test

Who Should Get This Test

To identify mutations in the AUH gene for accurate diagnosis of 3-methylglutaconic aciduria type 1, enabling early intervention and genetic counseling.

How to Prepare

  • Ensure proper sample labeling with patient details
  • Avoid hemolysis for blood samples
  • Use sterile collection techniques

Doctor's Notes

Reviewed by — MBBS, MD (Medical Genetics) · Reg. No. 8532

"Genetic testing is crucial for early diagnosis and management of rare metabolic disorders like 3-MGA-1, especially in families with a history of the condition."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample Volume3-5 mL of blood or as per requirement
ContainerEDTA tube or FTA card
Collection MethodVenipuncture or blood drop on FTA card

Sample Stability

Blood in EDTA tube: 2-8°C for up to 7 days
FTA card: Room temperature stable for extended periods
Sample Rejection Criteria:
  • Insufficient sample volume
  • Contaminated or hemolyzed sample
  • Incorrect labeling or missing information

Understanding Your Results

Results indicate the presence or absence of mutations in the AUH gene associated with 3-methylglutaconic aciduria type 1.
Positive: Pathogenic variant detected, consistent with 3-MGA-1 diagnosis
Negative: No pathogenic variants detected, but clinical correlation is advised
Variant of uncertain significance: Further testing or family studies may be required
⚠️ When to Consult a Doctor:

If symptoms of 3-MGA-1 are present, family history is positive, or for carrier testing and prenatal diagnosis, consult a geneticist or metabolic specialist.

Limitations

  • ⚠May not detect all types of mutations
  • ⚠Requires genetic counseling for interpretation
  • ⚠Results may have variants of uncertain significance

Risks & Considerations

  • ●Minimal risk from blood draw (e.g., bruising, infection)
  • ●Psychological impact of genetic results
  • ●Potential for uncertain findings

Interfering Factors

  • ●Sample contamination
  • ●Degraded DNA
  • ●Incorrect sample handling

Compare With Similar Tests

TestAUH Gene 3-methylglutaconic aciduria type 1 NGS Genetic Test
ComparisonAUH Gene 3-methylglutaconic aciduria type 1 NGS Genetic Test

Frequently Asked Questions

What is 3-methylglutaconic aciduria type 1 (3-MGA-1)?
3-MGA-1 is a rare genetic disorder caused by mutations in the AUH gene, leading to impaired breakdown of certain fats and proteins, resulting in developmental delays, muscle weakness, and other symptoms.
What causes 3-MGA-1?
It is caused by mutations in the AUH gene, which provides instructions for making the enzyme 3-methylglutaconyl-CoA hydratase, essential for metabolizing leucine.
What are the common symptoms of 3-MGA-1?
Symptoms include developmental delays, hypotonia, seizures, vision problems, cardiomyopathy, and elevated levels of 3-methylglutaconic acid in urine.
How is 3-MGA-1 diagnosed?
Diagnosis involves clinical evaluation, biochemical tests (e.g., urine organic acid analysis), and genetic testing to identify mutations in the AUH gene.
What is the AUH Gene NGS Genetic Test?
It is a next-generation sequencing test that analyzes the AUH gene to detect mutations associated with 3-MGA-1, providing accurate genetic diagnosis.
How is the test performed?
The test is performed on a blood or saliva sample using NGS technology to sequence the AUH gene and identify pathogenic variants.
What sample is required for the test?
A blood sample (3-5 mL in EDTA tube), extracted DNA, or one drop of blood on an FTA card can be used.
How long does it take to get results?
Results are typically available within 3 to 4 weeks after sample collection.
What does a positive test result mean?
A positive result indicates the presence of pathogenic mutations in the AUH gene, confirming a diagnosis of 3-MGA-1 and guiding management.
What does a negative test result mean?
A negative result means no pathogenic variants were detected, but clinical correlation is advised as symptoms may be due to other causes.
Is genetic counseling recommended before and after the test?
Yes, genetic counseling is recommended to discuss the implications of testing, interpret results, and provide support for family planning.
What is the cost of the test and is it covered by insurance?
The test costs INR 20,000 at DNA Labs India. Coverage by insurance varies; check with your provider for details.
Worried about the process? Our certified phlebotomists collect thousands of samples every month across India. The process takes under 5 minutes and is virtually painless. Questions? Message us on WhatsApp — we're here 7 days a week.

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